Open Access. Powered by Scholars. Published by Universities.®
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons™
Open Access. Powered by Scholars. Published by Universities.®
Articles 1 - 1 of 1
Full-Text Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Mechanisms Of Trinucleotide Repeat Instability During Dna Synthesis, Kara Y. Chan
Mechanisms Of Trinucleotide Repeat Instability During Dna Synthesis, Kara Y. Chan
Theses and Dissertations--Toxicology and Cancer Biology
Genomic instability, in the form of gene mutations, insertions/deletions, and gene amplifications, is one of the hallmarks in many types of cancers and other inheritable genetic disorders. Trinucleotide repeat (TNR) disorders, such as Huntington’s disease (HD) and Myotonic dystrophy (DM) can be inherited and repeats may be extended through subsequent generations. However, it is not clear how the CAG repeats expand through generations in HD. Two possible repeat expansion mechanisms include: 1) polymerase mediated repeat extension; 2) persistent TNR hairpin structure formation persisting in the genome resulting in expansion after subsequent cell division. Recent in vitro studies suggested that a …